Canonical Allele Identifier: CA409437682

Gene: PCK1

Linked Data

• dbSNP Id: rs1317955321
• gnomAD v2: 20-56140661-A-G
• MyVariant Identifiers: chr20:g.56140661A>G (hg19) ; chr20:g.57565605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565605A>G , CM000682.2:g.57565605A>G	GRCh38
NC_000020.10:g.56140661A>G , CM000682.1:g.56140661A>G	GRCh37
NC_000020.9:g.55574067A>G	NCBI36
NG_008205.1:g.9525A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1670A>G MANE Select	ENSP00000319814.4:p.Tyr557Cys
ENST00000319441.5:c.1670A>G	ENSP00000319814.4:p.Tyr557Cys
ENST00000467047.1:n.4312A>G
NM_002591.3:c.1670A>G	NP_002582.3:p.Tyr557Cys
XM_011528839.1:c.1274A>G	XP_011527141.1:p.Tyr425Cys
XM_024451888.1:c.1274A>G	XP_024307656.1:p.Tyr425Cys
NM_002591.4:c.1670A>G MANE Select	NP_002582.3:p.Tyr557Cys